S M Holland

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. ncbi request reprint Evaluation of the patient with recurrent bacterial infections
    S M Holland
    Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Annu Rev Med 49:185-99. 1998
  2. pmc Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilon
    J A Lekstrom-Himes
    Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Exp Med 189:1847-52. 1999
  3. ncbi request reprint IFN-gamma is effective in reducing infections in the mouse model of chronic granulomatous disease (CGD)
    S H Jackson
    The Laboratory of Host Defenses, NIAID, NIH, Bethesda, MD 20892, USA
    J Interferon Cytokine Res 21:567-73. 2001
  4. pmc Efficacies of fluconazole, caspofungin, and amphotericin B in Candida glabrata-infected p47phox-/- knockout mice
    Justina Y Ju
    Clinical Mycology Section, Laboratory of Clinical Investigation, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Antimicrob Agents Chemother 46:1240-5. 2002
  5. doi request reprint Hyper IgE (Job's) syndrome: a primary immune deficiency with oral manifestations
    A F Freeman
    Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA
    Oral Dis 15:2-7. 2009
  6. pmc Chronic granulomatous disease
    Steven M Holland
    Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, CRC B3 4141, MSC 1684, Bethesda, MD 20892 1684, USA
    Hematol Oncol Clin North Am 27:89-99, viii. 2013
  7. pmc Novel human genetic variants associated with extrapulmonary tuberculosis: a pilot genome wide association study
    Noffisat O Oki
    Bioinformatics Research Center, Department of Statistics, North Carolina State University, Raleigh, NC, USA
    BMC Res Notes 4:28. 2011
  8. pmc Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis
    Alison A Motsinger-Reif
    Division of Infectious Diseases, Department of Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA
    BMC Med Genet 11:37. 2010
  9. ncbi request reprint STAT3 mutations in the hyper-IgE syndrome
    Steven M Holland
    National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA
    N Engl J Med 357:1608-19. 2007
  10. ncbi request reprint Immunotherapy of mycobacterial infections
    S M Holland
    Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA
    Semin Respir Infect 16:47-59. 2001

Detail Information

Publications134 found, 100 shown here

  1. ncbi request reprint Evaluation of the patient with recurrent bacterial infections
    S M Holland
    Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Annu Rev Med 49:185-99. 1998
    ..The diseases and syndromes most frequently associated with recurrent infection are presented, along with discriminating clinical, pathologic, and microbiologic features...
  2. pmc Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilon
    J A Lekstrom-Himes
    Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Exp Med 189:1847-52. 1999
    ....
  3. ncbi request reprint IFN-gamma is effective in reducing infections in the mouse model of chronic granulomatous disease (CGD)
    S H Jackson
    The Laboratory of Host Defenses, NIAID, NIH, Bethesda, MD 20892, USA
    J Interferon Cytokine Res 21:567-73. 2001
    ..This animal model demonstrates a prophylactic benefit of IFN-gamma similar to that seen in humans and provides an opportunity to investigate the mechanism(s) of action for IFN-gamma in CGD...
  4. pmc Efficacies of fluconazole, caspofungin, and amphotericin B in Candida glabrata-infected p47phox-/- knockout mice
    Justina Y Ju
    Clinical Mycology Section, Laboratory of Clinical Investigation, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Antimicrob Agents Chemother 46:1240-5. 2002
    ..This murine model provided evidence of the efficacy of amphotericin B and caspofungin but not of fluconazole against C. glabrata infection...
  5. doi request reprint Hyper IgE (Job's) syndrome: a primary immune deficiency with oral manifestations
    A F Freeman
    Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA
    Oral Dis 15:2-7. 2009
    ..In this review, we discuss the clinical phenotype of HIES including immunologic and non-immunologic features, the genetics of HIES, and treatment...
  6. pmc Chronic granulomatous disease
    Steven M Holland
    Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, CRC B3 4141, MSC 1684, Bethesda, MD 20892 1684, USA
    Hematol Oncol Clin North Am 27:89-99, viii. 2013
    ..Therefore, CGD is worthy of attention for its historical interest and because it is a disease for which expert management is imperative...
  7. pmc Novel human genetic variants associated with extrapulmonary tuberculosis: a pilot genome wide association study
    Noffisat O Oki
    Bioinformatics Research Center, Department of Statistics, North Carolina State University, Raleigh, NC, USA
    BMC Res Notes 4:28. 2011
    ..abstract:..
  8. pmc Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis
    Alison A Motsinger-Reif
    Division of Infectious Diseases, Department of Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA
    BMC Med Genet 11:37. 2010
    ..Human genetic variants may affect tuberculosis susceptibility, but the immunologic correlates of the genetic variants identified are often unclear...
  9. ncbi request reprint STAT3 mutations in the hyper-IgE syndrome
    Steven M Holland
    National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA
    N Engl J Med 357:1608-19. 2007
    ..Inheritance is autosomal dominant; sporadic cases are also found...
  10. ncbi request reprint Immunotherapy of mycobacterial infections
    S M Holland
    Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA
    Semin Respir Infect 16:47-59. 2001
    ..In this article, the critical pathways and some of the relevant cytokines and studies are reviewed. This is a US government work. There are no restrictions on its use...
  11. ncbi request reprint Interferon gamma, IL-12, IL-12R and STAT-1 immunodeficiency diseases: disorders of the interface of innate and adaptive immunity
    Steven M Holland
    Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, CRC B3 4141 MSC 1684, Bethesda, MD 20892 1684, USA
    Immunol Res 38:342-6. 2007
    ....
  12. ncbi request reprint Abnormal regulation of interferon-gamma, interleukin-12, and tumor necrosis factor-alpha in human interferon-gamma receptor 1 deficiency
    S M Holland
    Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA
    J Infect Dis 178:1095-104. 1998
    ..An abnormal phenotype was not found in heterozygous patient relatives. These patients demonstrate the critical role that the IFN-gamma receptor plays in the regulation of IFN-gamma, IL-12, and TNF-alpha...
  13. doi request reprint Chronic granulomatous disease
    Steven M Holland
    Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892 1684, USA
    Clin Rev Allergy Immunol 38:3-10. 2010
    ..Some of the recent developments in infectious syndromes, inflammatory complications, and curative approaches are discussed in this review...
  14. ncbi request reprint Nontuberculous mycobacteria
    S M Holland
    Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892 1886, USA
    Am J Med Sci 321:49-55. 2001
    ..Thus, the search for genetic and acquired susceptibility to nontuberculous mycobacteria is also a search for susceptibility factors for MTB as well as an opportunity to recognize endogenous pathways that can be exploited therapeutically...
  15. ncbi request reprint Treatment of infections in the patient with Mendelian susceptibility to mycobacterial infection
    S M Holland
    Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bldg 10, 11N103, 10 Center Dr, MSC 1886, Bethesda, MD 20892 1886, USA
    Microbes Infect 2:1579-90. 2000
    ..Better understanding of the critical elements of the cytokine pathways may show us ways to circumvent these defects with complementary cytokine cascades...
  16. ncbi request reprint Genetic demonstration of p47phox-dependent superoxide anion production in murine vascular smooth muscle cells
    M C Lavigne
    Laboratory of Host Defenses, National Institutes of Health, National Institute of Allergy and Infectious Diseases, Bethesda, MD, USA
    Circulation 104:79-84. 2001
    ....
  17. pmc Prolonged production of NADPH oxidase-corrected granulocytes after gene therapy of chronic granulomatous disease
    H L Malech
    Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 10 Center Drive, MSC 1886, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 94:12133-8. 1997
    ..These features enhance the safety of PBSCs directed gene therapy...
  18. pmc Virulence of catalase-deficient aspergillus nidulans in p47(phox)-/- mice. Implications for fungal pathogenicity and host defense in chronic granulomatous disease
    Y C Chang
    Laboratory of Clinical Investigation, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Clin Invest 101:1843-50. 1998
    ..Taken together, these results indicate that catalases do not play a significant role in pathogenicity of A. nidulans in p47(phox)-/- mice, and therefore raise doubt about the central role of catalases as a fungal virulence factor in CGD...
  19. ncbi request reprint Enhanced host defense after gene transfer in the murine p47phox-deficient model of chronic granulomatous disease
    M Mardiney
    Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892 1886, USA
    Blood 89:2268-75. 1997
    ..001). Thus, stem-cell-directed ex vivo gene therapy is capable of restoring phagocyte oxidant-dependent host-defense function in this mouse model of a human immune-system disorder...
  20. pmc The p47(phox-/-) mouse model of chronic granulomatous disease has normal granuloma formation and cytokine responses to Mycobacterium avium and Schistosoma mansoni eggs
    B H Segal
    Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Infect Immun 67:1659-65. 1999
    ..Appropriate regression of established tissue granulomata in p47(phox-/-) mice challenged with SME suggests that abnormal granuloma formation in CGD is stimulus dependent and is not an invariant feature of the disease...
  21. ncbi request reprint Disseminated trichosporonosis in a murine model of chronic granulomatous disease
    Shannon H Lacy
    Veterinary Pathology Section, Veterinary Resources Program, Office of Research Services, National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Comp Med 53:303-8. 2003
    ..We discuss the lesions, differential diagnosis, identification of the organism, and the role of NADPH oxidase in protecting against disseminated trichosporonosis...
  22. ncbi request reprint Genetic requirement of p47phox for superoxide production by murine microglia
    M C Lavigne
    Laboratory of Host Defenses, NIAID, NIH, Bethesda, MD 20892, USA
    FASEB J 15:285-7. 2001
    ..These data provide genetic proof that p47phox is necessary for superoxide release by microglial cells and indicate that a system related to the phagocyte oxidase is active in these cells...
  23. pmc The relationship between alloimmunization and posttransfusion granulocyte survival: experience in a chronic granulomatous disease cohort
    K F Heim
    Department of Transfusion Medicine and Laboratory Medicine, Warren Grant Magnuson Clinical Center and the National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892 1184, USA
    Transfusion 51:1154-62. 2011
    ....
  24. ncbi request reprint Vascular effects following homozygous disruption of p47(phox) : An essential component of NADPH oxidase
    E Hsich
    Laboratory of Molecular Biology, National Heart, Lung, and Blood Institute, and the Laboratory of Host Defenses, National Institute of Health, Bethesda, MD 20892, USA
    Circulation 101:1234-6. 2000
    ..We tested the contribution of this specific oxidase to the progression of atherosclerosis and the regulation of blood pressure...
  25. ncbi request reprint Detection of intracellular phosphorylated STAT-4 by flow cytometry
    G Uzel
    Immunology Service, Warren Grant Magnuson Clinical Center, Bethesda, Maryland 20892, USA
    Clin Immunol 100:270-6. 2001
    ..Using this flow cytometry-based method, we should be able to detect patients with defects in IL-12 receptor signal transduction, who typically present with disseminated nontuberculous mycobacterial infections...
  26. ncbi request reprint Reinfection, rather than persistent infection, in patients with chronic granulomatous disease
    Shireen V Guide
    Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases and Clinical Research Training Program NIH, 10 Center Drive, Bethesda, MD 20892, USA
    J Infect Dis 187:845-53. 2003
    ..001). Recurrent S. aureus infections were caused by new strains in 7 of 8 cases (P=.006). In patients with CGD, recurrence of infection with the same bacterial species after appropriate antibiotic therapy usually represents new infection...
  27. pmc Neosartorya udagawae (Aspergillus udagawae), an emerging agent of aspergillosis: how different is it from Aspergillus fumigatus?
    J A Sugui
    Laboratory of Clinical Infectious Diseases, National Institutes of Health, 10 Center Drive, RM 11N234, Bethesda, MD 20892, USA
    J Clin Microbiol 48:220-8. 2010
    ..These findings suggest that growth and susceptibility to the host response might account for the reduced virulence of N. udagawae and the subtle distinction in the progression of the disease caused by the two species...
  28. ncbi request reprint Treatment of chronic granulomatous disease with nonmyeloablative conditioning and a T-cell-depleted hematopoietic allograft
    M E Horwitz
    Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    N Engl J Med 344:881-8. 2001
    ..We investigated the feasibility of stem-cell transplantation without ablation of the recipient's bone marrow...
  29. ncbi request reprint Cloning and functional expression of the mouse homologue of p47phox
    S H Jackson
    Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892
    Immunogenetics 39:272-5. 1994
  30. pmc Familial clustering of pulmonary nontuberculous mycobacterial disease
    Rhonda E Colombo
    Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Clinical Center, National Institutes of Health, Bethesda, MD 20892 1888, USA
    Chest 137:629-34. 2010
    ..Although genetic causes of disseminated NTM infection are well characterized, genetic causes for most human susceptibility to pulmonary NTM infection have not been determined...
  31. pmc Refractory disseminated coccidioidomycosis and mycobacteriosis in interferon-gamma receptor 1 deficiency
    Donald C Vinh
    Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892 1684, USA
    Clin Infect Dis 49:e62-5. 2009
    ..Therefore, the interleukin-12/interferon-gamma axis appears to be critical for control of coccidioidomycosis...
  32. pmc Phagocyte NADPH oxidase, but not inducible nitric oxide synthase, is essential for early control of Burkholderia cepacia and chromobacterium violaceum infection in mice
    Brahm H Segal
    Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Infect Immun 71:205-10. 2003
    ....
  33. pmc Recurrent Burkholderia infection in patients with chronic granulomatous disease: 11-year experience at a large referral center
    David E Greenberg
    Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA
    Clin Infect Dis 48:1577-9. 2009
    ..We found that recurrent pulmonary infection with distinct Burkholderia strains is common in chronic granulomatous disease...
  34. ncbi request reprint Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies
    Susan E Dorman
    Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Building 10, CRC B3 419, 10 Center Drive, MSC 1684, Bethesda, MD 20892 1684, USA
    Lancet 364:2113-21. 2004
    ..We aimed to compare the clinical features of recessive and dominant IFNgammaR1 deficiencies...
  35. ncbi request reprint Respiratory syncytial virus infection in patients with phagocyte defects
    G Uzel
    Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892 1886, USA
    Pediatrics 106:835-7. 2000
    ..Viral cultures as well as rapid antigen detection assays for respiratory viruses should be included in the evaluation of LRTI in patients with phagocyte defects. respiratory syncytial virus, phagocyte, immunodeficiency, pneumonia...
  36. pmc Genetic linkage of hyper-IgE syndrome to chromosome 4
    B Grimbacher
    Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 4442, USA
    Am J Hum Genet 65:735-44. 1999
    ..Linkage analysis showed a maximum two-point LOD score of 3.61 at recombination fraction of 0 with marker D4S428. Multipoint analysis and simulation testing confirmed that the proximal 4q region contains a disease locus for HIES...
  37. ncbi request reprint Immune deficiency presenting as mycobacterial infection
    S M Holland
    Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bldg 10, 11N103, 10 Center Dr, MSC 1886 Bethesda, MD 20892-1886, USA
    Clin Rev Allergy Immunol 20:121-37. 2001
    ..Dissection of these pathways, identification of the most proximal factors, and exploitation of these findings for the treatment of mycobacterial and other intracellular infections is the critical charge for the future...
  38. ncbi request reprint Update on phagocytic defects
    Steven M Holland
    National Instute of Allergy and Infectious Diseases, National Instututes of Health, Bethesda, MD, USA
    Pediatr Infect Dis J 22:87-8. 2003
  39. ncbi request reprint Anti-IFN-gamma autoantibodies in disseminated nontuberculous mycobacterial infections
    Smita Y Patel
    Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892 1684, USA
    J Immunol 175:4769-76. 2005
    ..In contrast, this anti-IFN-gamma Ab had no effect on IFN-alpha-dependent STAT-1 phosphorylation. These patients confirm a novel syndrome linking autoimmunity and immunodeficiency...
  40. pmc Polymorphisms associated with resistance and cross-resistance to aminoglycosides and capreomycin in Mycobacterium tuberculosis isolates from South Korean Patients with drug-resistant tuberculosis
    Laura E Via
    Tuberculosis Research Section, Laboratory of Clinical Infectious Disease, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, Maryland, USA
    J Clin Microbiol 48:402-11. 2010
    ....
  41. pmc Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection
    S E Dorman
    Laboratory of Host Defenses, National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892 1886, USA
    J Clin Invest 101:2364-9. 1998
    ..This novel gene defect associated with disseminated nontuberculous mycobacterial infection emphasizes the critical role that IFN-gamma plays in host defense against mycobacteria...
  42. ncbi request reprint Human host genetic factors in nontuberculous mycobacterial infection: lessons from single gene disorders affecting innate and adaptive immunity and lessons from molecular defects in interferon-gamma-dependent signaling
    M H Haverkamp
    Department of Infectious Diseases, Leiden University Medical Center, Albinusdreef, Postbus 9600, 2300 RC Leiden, The Netherlands
    Microbes Infect 8:1157-66. 2006
    ..These rare defects have led to better molecular and mechanistic understanding of the role of IFN-gamma in the human immune system...
  43. doi request reprint The research agenda of the National Institute of Allergy and Infectious Diseases for antimicrobial resistance
    N Kent Peters
    National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892 6603, USA
    J Infect Dis 197:1087-93. 2008
    ..The basic and clinical research supported by NIAID will, ideally, continue to yield profound rewards in terms of the understanding, diagnosis, and treatment of infectious diseases...
  44. ncbi request reprint Dermatitis and the newborn rash of hyper-IgE syndrome
    Cheryl Lee D Eberting
    Dermatology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892 1908, USA
    Arch Dermatol 140:1119-25. 2004
    ..To characterize the dermatitis, the newborn rash, and cutaneous findings in hyper-IgE syndrome, also known as Job's syndrome...
  45. pmc "Mycobacterium tilburgii," a newly described, uncultivated opportunistic pathogen
    Tara N Palmore
    Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA
    J Clin Microbiol 47:1585-7. 2009
    ..The case illustrates the diagnostic utility of sequence analysis of the 16S rRNA gene directly from clinical specimens...
  46. pmc Nocardia kruczakiae sp. nov., a pathogen in immunocompromised patients and a member of the "N. nova complex"
    Patricia S Conville
    Microbiology Service, Department of Laboratroy Medicine, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892 1508, USA
    J Clin Microbiol 42:5139-45. 2004
    ..nova complex" can be used to designate isolates such as these that phenotypically resemble N. nova but that have not been definitively characterized by 16S rRNA gene sequencing or DNA-DNA hybridization...
  47. ncbi request reprint In vivo lipid-derived free radical formation by NADPH oxidase in acute lung injury induced by lipopolysaccharide: a model for ARDS
    Keizo Sato
    Free Radical Metabolite Section, Laboratory of Pharmacology and Chemistry, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, North Carolina 27709, USA
    FASEB J 16:1713-20. 2002
    ..Rats treated intratracheally with LPS generate lipid-derived free radicals via activation of NADPH oxidase...
  48. pmc Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1)
    Gulbu Uzel
    Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases NIAID, National Institutes of Health NIH, Bethesda, MD, USA
    Blood 111:209-18. 2008
    ..The discovery of 3 cases of reversion mutations in LAD-1 at one center suggests that this may be a relatively common event in this rare disease...
  49. pmc Genome sequence analysis of the emerging human pathogenic acetic acid bacterium Granulibacter bethesdensis
    David E Greenberg
    Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, U S Department of Health and Human Services, Bethesda, MD 20892 1684, USA
    J Bacteriol 189:8727-36. 2007
    ..G. bethesdensis is a genetically diverse emerging human pathogen that may have recently acquired virulence factors new to this family of organisms...
  50. pmc Diverse herpes simplex virus type 1 thymidine kinase mutants in individual human neurons and Ganglia
    Kening Wang
    Medical Virology Section, Laboratory of Clinical Infectious Disease, NIAID NIH, Building 10, Room 11N 234, 10 Center Dr, Bethesda, MD 20892, USA
    J Virol 81:6817-26. 2007
    ..These data suggest that diverse tk mutants arise independently under drug selection and establish latency in human sensory ganglia alone or together with wild-type virus...
  51. ncbi request reprint Pneumocystis jiroveci infection in patients with hyper-immunoglobulin E syndrome
    Alexandra F Freeman
    National Institute of Allergy and Infectious Disease, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892, USA
    Pediatrics 118:e1271-5. 2006
    ..Our experience suggests that P. jiroveci can cause pneumonia in patients with hyper-immunoglobulin E syndrome both with and without chronic lung disease...
  52. ncbi request reprint Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition
    Raphaela Goldbach-Mansky
    National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    N Engl J Med 355:581-92. 2006
    ..Many patients have mutations in the cold-induced autoinflammatory syndrome 1 (CIAS1) gene, encoding cryopyrin, a protein that regulates inflammation...
  53. ncbi request reprint Linezolid-resistant Staphylococcus aureus in two pediatric patients receiving low-dose linezolid therapy
    Susanne M Roberts
    Department of Laboratory Medicine, Clinical Center, National Institutes of Health, U S Department of Health and Human Services, Bethesda, MD 20892, USA
    Pediatr Infect Dis J 25:562-4. 2006
    ..LZD-susceptible S. aureus was isolated 2 months after LZD discontinuation. LZD-resistant S. aureus remains rare but may occur while receiving suppressive therapy...
  54. pmc A novel bacterium associated with lymphadenitis in a patient with chronic granulomatous disease
    David E Greenberg
    Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA
    PLoS Pathog 2:e28. 2006
    ..This is the first reported case of invasive human disease caused by any of the Acetobacteraceae. Polyphasic taxonomic analysis shows this organism to be a new genus and species for which we propose the name Granulobacter bethesdensis...
  55. pmc Cohort study of molecular identification and typing of Mycobacterium abscessus, Mycobacterium massiliense, and Mycobacterium bolletii
    Adrian M Zelazny
    Microbiology Service, Department of Laboratory Medicine, NIAD, National Institutes of Health, Bethesda, MD 20892, USA
    J Clin Microbiol 47:1985-95. 2009
    ..abscessus and closely related species. Molecular typing complements sequence-based identification and provides information on prevalent clones with possible relevant clinical aspects...
  56. pmc Mycobacterium abscessus and M. avium trigger Toll-like receptor 2 and distinct cytokine response in human cells
    Elizabeth P Sampaio
    Laboratory of Clinical Infectious Diseases, National Institutes of Health, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892 1684, USA
    Am J Respir Cell Mol Biol 39:431-9. 2008
    ..We concluded that MAB signals human cells through MAPK and TLR2 pathways and triggers more pronounced pro-inflammatory cytokines and chemokines than MAV...
  57. pmc Nocardia veterana as a pathogen in North American patients
    Patricia S Conville
    Microbiology Service, Department of Laboratory Medicine, Warren G Magnuson Clinical Center, National Institutes of Health, U S Department of Health and Human Services, Bethesda, Maryland 20892, USA
    J Clin Microbiol 41:2560-8. 2003
    ..veterana from the related species Nocardia africana and N. nova because of the very high degree of 16S rRNA gene similarity among them...
  58. pmc Complications of tumor necrosis factor-α blockade in chronic granulomatous disease-related colitis
    Gulbu Uzel
    Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA
    Clin Infect Dis 51:1429-34. 2010
    ..Management of CGD colitis is a challenge because standard immunosuppressive therapy increases the risk of infection in already immunocompromised hosts...
  59. doi request reprint Coronary abnormalities in hyper-IgE recurrent infection syndrome: depiction at coronary MDCT angiography
    Ahmed M Gharib
    Department of Radiology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Clinical Research Center, Bethesda, MD 20892, USA
    AJR Am J Roentgenol 193:W478-81. 2009
    ..Such an evaluation has potential value in identifying new aspects of this disease and thereby providing better understanding of the pathophysiology of the disorder...
  60. pmc Spontaneous Staphylococcus xylosus infection in mice deficient in NADPH oxidase and comparison with other laboratory mouse strains
    Alfonso S Gozalo
    Comparative Medicine Branch, National Institute of Allergy and Infectious Diseases, Bethesda, Maryland, USA
    J Am Assoc Lab Anim Sci 49:480-6. 2010
    ..This report expands the range of mouse strains and tissues and organs susceptible to spontaneous S. xylosus infection and compares the pathology among various mice strains...
  61. pmc Recurrent Granulibacter bethesdensis infections and chronic granulomatous disease
    David E Greenberg
    National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892 1684, USA
    Emerg Infect Dis 16:1341-8. 2010
    ..This organism is multidrug resistant, and therapy required surgery and combination antimicrobial drugs, including long-term ceftriaxone. G. bethesdensis causes necrotizing lymphadenitis in CGD, which may recur or relapse...
  62. pmc Nontuberculous mycobacterial lung disease prevalence at four integrated health care delivery systems
    D Rebecca Prevots
    Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Am J Respir Crit Care Med 182:970-6. 2010
    ..Single-site clinic-based studies suggest an increasing prevalence of pulmonary nontuberculous mycobacteria (NTM) disease, but systematic data are lacking...
  63. pmc High-dose continuous infusion beta-lactam antibiotics for the treatment of resistant Pseudomonas aeruginosa infections in immunocompromised patients
    Brad Moriyama
    National Institutes of Health Clinical Center Pharmacy Department, Bethesda, MD 20892, USA
    Ann Pharmacother 44:929-35. 2010
    ..To report a case series of high-dose continuous infusion beta-lactam antibiotics for the treatment of resistant Pseudomonas aeruginosa infections...
  64. pmc Antisense phosphorodiamidate morpholino oligomers targeted to an essential gene inhibit Burkholderia cepacia complex
    David E Greenberg
    Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Office of Research Services, National Institutes of Health, Bethesda, Maryland, USA
    J Infect Dis 201:1822-30. 2010
    ..Many Bcc strains are antibiotic resistant, which requires the exploration of novel antimicrobial approaches, including antisense technologies such as phosphorodiamidate morpholino oligomers (PMOs)...
  65. ncbi request reprint Hyper IgE syndrome: review and future directions
    Alexandra F Freeman
    National Institute of Allergy and Infectious Disease, National Institutes of Health, Building 10, CRC B3 4141, MSC 1684, Bethesda, MD 20892 1684, USA
    Expert Rev Clin Immunol 1:645-51. 2005
    ..Identification of the genetic etiology or etiologies of this syndrome will allow for targeted therapies as well as great advances in understanding the connections between immunologic function and connective tissue...
  66. pmc Immunodeficiency secondary to anticytokine autoantibodies
    Sarah K Browne
    Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA
    Curr Opin Allergy Clin Immunol 10:534-41. 2010
    ..We will review the clinical and laboratory features of syndromes in which immunodeficiency is caused by or associated with neutralizing anticytokine autoantibodies...
  67. pmc Intrathoracic nontuberculous mycobacterial infections in otherwise healthy children
    Alexandra F Freeman
    SAIC Frederick, Inc, NCI Frederick, Frederick, Maryland 27102, USA
    Pediatr Pulmonol 44:1051-6. 2009
    ..It does not appear to be associated with recognized underlying immune deficiency or CFTR mutations...
  68. doi request reprint Antimicrobial prophylaxis for primary immunodeficiencies
    Alexandra F Freeman
    Laboratory of Clinical Infectious Diseases, NIAID, NIH, Bethesda, Maryland 20892, USA
    Curr Opin Allergy Clin Immunol 9:525-30. 2009
    ..Antibiotic prophylaxis is one of the mainstays of therapy of primary immunodeficiencies. We aim to summarize what is known about antibiotic prophylaxis for select primary immunodeficiencies...
  69. ncbi request reprint A man with distinctive facial features and recurrent pyoderma, pneumonia, and skeletal fractures
    Christine L Tock
    Dermatology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892 1908, USA
    J Am Acad Dermatol 50:627-9. 2004
  70. pmc Virulence and cellular interactions of Burkholderia multivorans in chronic granulomatous disease
    Adrian M Zelazny
    Microbiology Service, Department of Laboratory Medicine, National Institutes of Health, 10 Center Dr, Bethesda, MD 20892, USA
    Infect Immun 77:4337-44. 2009
    ..Taken together, these results may shed light on the unique susceptibility of CGD patients to specific pathogens...
  71. ncbi request reprint Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment
    Beverly N Hay
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Am J Med Genet A 125:145-51. 2004
    ..This primary immunodeficiency with distinctive neurological impairments represents a new syndrome. Published 2003 Wiley-Liss, Inc...
  72. ncbi request reprint Granulibacter bethesdensis gen. nov., sp. nov., a distinctive pathogenic acetic acid bacterium in the family Acetobacteraceae
    David E Greenberg
    Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, US Department of Health and Human Services, Bethesda, MD 20892, USA
    Int J Syst Evol Microbiol 56:2609-16. 2006
    ..nov., sp. nov. is proposed. The type strain is CGDNIH1T (=ATCC BAA-1260T=DSM 17861T)...
  73. pmc Acupuncture for symptom management in patients with hyper-IgE (Job's) syndrome
    Adeline X Y Ge
    National Center for Complementary and Alternative Medicine, National Institutes of Health, Bethesda, MD 20892, USA
    J Altern Complement Med 17:71-6. 2011
    ..The objective of this study was to investigate the effects of acupuncture treatment for symptom management in patients with hyper-immunoglobulin E (IgE) syndrome (HIES)...
  74. doi request reprint Clinical manifestations of hyper IgE syndromes
    Alexandra F Freeman
    Laboratory of Clinical Infectious Diseases, NIAID, NIH, Bethesda, MD, USA
    Dis Markers 29:123-30. 2010
    ..The identification of these genetic etiologies is leading to advances in understanding the pathogenesis of these syndromes with the goal of improving treatment...
  75. doi request reprint Novel intraoral phenotypes in hyperimmunoglobulin-E syndrome
    D L Domingo
    National Institute of Dental and Craniofacial Research, Bethesda, MD 20892, USA
    Oral Dis 14:73-81. 2008
    ..This study aims to characterize intraoral soft tissue findings in HIES patients...
  76. ncbi request reprint Successful renal transplantation in patients with chronic granulomatous disease
    A Bolanowski
    Department of Surgery, National Naval Medical Center, Bethesda, Maryland, USA
    Am J Transplant 6:636-9. 2006
    ..These case reports also highlight the unexpectedly benign effects of immunosuppressive therapy in this patient population...
  77. ncbi request reprint Th1 T-cell and monocyte defects
    G Uzel
    Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA
    Pediatr Clin North Am 47:1275-89. 2000
    ..In this article, the authors review the interaction of T cells and monocytes in the context of host defense against intracellular pathogens. Known genetic defects in these pathways are summarized...
  78. ncbi request reprint Dysfunctional LAD-1 neutrophils and colitis
    G Uzel
    Immunology Services, Department of Laboratory Medicine, National Cancer Institute NIH, Bethesda, Maryland, USA
    Gastroenterology 121:958-64. 2001
    ..The existence of active IBD in the presence of dysfunctional CD18/CD11(a-b) intercellular adhesion molecules (ICAM-1) interaction is relevant to the proposed targeting of ICAM-1 for the treatment of Crohn's disease...
  79. ncbi request reprint Infections with Haemophilus species in chronic granulomatous disease: insights into the interaction of bacterial catalase and H2O2 production
    S Kottilil
    Laboratory of Immunoregulation, NIAID, NIH, Bethesda, MD 20892, USA
    Clin Immunol 106:226-30. 2003
    ..These are the first reports of NHI Haemophilus species in CGD and reinforce the critical need for careful microbiologic evaluation of infections in CGD patients...
  80. ncbi request reprint Human immunodeficiency virus-seronegative adults with extrapulmonary tuberculosis have abnormal innate immune responses
    T R Sterling
    Division of Infectious Diseases, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Clin Infect Dis 33:976-82. 2001
    ....
  81. ncbi request reprint Disseminated nocardiosis in a patient with X-linked chronic granulomatous disease and human immunodeficiency virus infection
    I Sereti
    Laboratory of Immunoregulation, National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892-1886, USA
    Clin Infect Dis 33:235-9. 2001
    ....
  82. pmc The p47phox mouse knock-out model of chronic granulomatous disease
    S H Jackson
    Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892 1886, USA
    J Exp Med 182:751-8. 1995
    ..This model mirrors human CGD and confirms a critical role for the phagocyte NADPH oxidase in mammalian host defense...
  83. doi request reprint Diagnostic assays for chronic granulomatous disease and other neutrophil disorders
    Houda Zghal Elloumi
    Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA
    Methods Mol Biol 412:505-23. 2007
    ..The assays are relatively simple to perform, cost-effective, and can be performed with equipment available in most laboratories...
  84. doi request reprint Invasive aspergillosis due to Neosartorya udagawae
    Donald C Vinh
    Sections of Immunopathogenesis, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Department of Laboratory Medicine, National Institutes of Health, Bethesda, MD 20892 1684, USA
    Clin Infect Dis 49:102-11. 2009
    ..However, genetic-based methods indicate that organisms phenotypically identified as A. fumigatus actually constitute a mold complex, designated Aspergillus section fumigati subgenus fumigati...
  85. ncbi request reprint Leukocyte adhesion deficiency in children and Irish setter dogs
    Thomas R Bauer
    Experimental Transplantation and Immunology Branch, National Cancer Institute, National Institutes of Health, 10 Center MSC1907, Building 10, Room 12C116, Bethesda, MD 20892, USA
    Pediatr Res 55:363-7. 2004
    ....
  86. pmc Pulmonary nontuberculous mycobacterial disease: prospective study of a distinct preexisting syndrome
    Richard D Kim
    Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD 20892 1684, USA
    Am J Respir Crit Care Med 178:1066-74. 2008
    ..Pulmonary nontuberculous mycobacterial (PNTM) disease is increasing, but predisposing features have been elusive...
  87. ncbi request reprint A novel mutation in IFN-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states
    Sergio D Rosenzweig
    Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    J Immunol 173:4000-8. 2004
    ..The mutant construct 791delG exerts dominant negative effects on IFN-gamma signaling without cell surface display, suggesting that it is acting on pathways other than those involved in cell surface recognition of ligand...
  88. doi request reprint Interferon alpha treatment of patients with impaired interferon gamma signaling
    H I Bax
    Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, NIAID, NIH, CRC B3 4233 MSC 1684, Bethesda, MD 20892 1684, USA
    J Clin Immunol 33:991-1001. 2013
    ..In no case was disease exacerbated. In patients with profoundly impaired IFN-γ signaling who have refractory infections, IFN-α may have adjunctive anti-mycobacterial effects...
  89. ncbi request reprint The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators
    M Centola
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Instiutes of Health, Bethesda, MD 20892 1820, USA
    Blood 95:3223-31. 2000
    ..These results refine understanding of MEFV by placing the gene in the myelomonocytic-specific proinflammatory pathway and identifying it as an IFN-gamma immediate early gene...
  90. pmc Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia
    Donald C Vinh
    Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Blood 115:1519-29. 2010
    ..This novel clinical syndrome links susceptibility to mycobacterial, viral, and fungal infections with malignancy and can be transmitted in an autosomal dominant pattern...
  91. ncbi request reprint A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-deafness syndrome and the follicular occlusion triad
    Jay R Montgomery
    USN, National Naval Medical Center, Bethesda, Maryland 20889, USA
    J Am Acad Dermatol 51:377-82. 2004
    ..This is the first report of an association between a connexin 26 protein mutation, follicular hyperkeratosis of keratitis-ichthyosis-deafness syndrome, and severe follicular occlusion triad...
  92. ncbi request reprint Thioglycollate peritonitis in mice lacking C5, 5-lipoxygenase, or p47(phox): complement, leukotrienes, and reactive oxidants in acute inflammation
    Brahm H Segal
    Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA
    J Leukoc Biol 71:410-6. 2002
    ..These data suggest that LTB(4) and C5a have separate but overlapping roles in thioglycollate-elicited peritonitis, and at least the leukotriene component is, in turn, regulated by reactive oxidants...
  93. ncbi request reprint Gastrointestinal involvement in chronic granulomatous disease
    Beatriz E Marciano
    Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA
    Pediatrics 114:462-8. 2004
    ..The objective of this study was to evaluate the clinical presentation, prevalence, and consequences of GI involvement in patients with CGD...
  94. ncbi request reprint Interferon-gamma receptor 1 promoter polymorphisms: population distribution and functional implications
    Sergio D Rosenzweig
    Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, NIH, DHHS, Bethesda, MD 20892 1886, USA
    Clin Immunol 112:113-9. 2004
    ..The IFNGR1 MPR is a polymorphic region with at least two SNPs influencing its activity, but these are not associated with increased mycobacterial susceptibility...
  95. doi request reprint Pathogenesis of hyper IgE syndrome
    Jennifer Heimall
    Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892 1684, USA
    Clin Rev Allergy Immunol 38:32-8. 2010
    ..Better understanding of the pathophysiology and mechanisms of dominant and recessive hyper IgE syndromes will shed light on somatic and immune biology and may improve quality of life and survival for HIES patients...
  96. ncbi request reprint White blood cell defects: molecular discoveries and clinical management
    Gulbu Uzel
    Laboratory of Host Defenses, NIAID, NIH, 10 Center Drive, MSC 1886, Bethesda, MD 20892 1886, USA
    Curr Allergy Asthma Rep 2:385-91. 2002
    ..Neutrophil-specific granule deficiency and neutrophil elastase deficiency are discussed, the latter being the molecular defect in both cyclic neutropenia and in some sporadic cases of severe congenital neutropenia...
  97. pmc Chronic invasive aspergillosis caused by Aspergillus viridinutans
    Donald C Vinh
    National Institutes of Health, Bethesda, Maryland 20892 1684, USA
    Emerg Infect Dis 15:1292-4. 2009
    ..Disease was distinct from typical aspergillosis, being chronic and spreading in a contiguous manner across anatomical planes. We emphasize the recognition of fumigati-mimetic molds as agents of chronic or refractory aspergillosis...
  98. ncbi request reprint Long-term interferon-gamma therapy for patients with chronic granulomatous disease
    Beatriz E Marciano
    Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA
    Clin Infect Dis 39:692-9. 2004
    ..Infections are dramatically reduced by prophylaxis with antibiotics, antifungals, and interferon- gamma (IFN-gamma )...
  99. pmc Analysis of adhesion molecules, target cells, and role of IL-2 in human FOXP3+ regulatory T cell suppressor function
    Dat Q Tran
    Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    J Immunol 182:2929-38. 2009
    ..Taken together, one of the mechanisms of Treg-mediated suppression functions across species and mediates an LFA-1/ICAM-1-dependent interaction between Tregs and DCs...
  100. pmc Complex regulation of human cathelicidin gene expression: novel splice variants and 5'UTR negative regulatory element
    Houda Zghal Elloumi
    Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, CRC B3 4141, MSC 1684, Bethesda, MD 20892, USA
    Mol Immunol 45:204-17. 2008
    ..Negative and positive regulatory elements within the hCAP18 gene promoter provide new insights into the possible molecular basis of myeloid gene expression...
  101. ncbi request reprint Fulminant mulch pneumonitis: an emergency presentation of chronic granulomatous disease
    Sophia Siddiqui
    Laboratory of Immune Regulation, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Clin Infect Dis 45:673-81. 2007
    ..In patients with CGD, invasive pulmonary infection with Aspergillus species remains the greatest cause of mortality and is typically insidious in onset. Acute fulminant presentations of fungal pneumonia are catastrophic...